201231000146102: syndroom van microcefalie, hypergonadotropisch hypogonadisme en kleine gestalte bij vrouw (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Pelvic organ finding (finding)\Ovary finding\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Finding of pelvis (finding)\Finding of true pelvis\Pelvic organ finding (finding)\Ovary finding\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Finding of pelvis (finding)\Disorder of pelvis\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Female genitalia finding\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Female genitalia finding\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Female genitalia finding\Ovary finding\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Pelvic organ finding (finding)\Ovary finding\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Female genitalia finding\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Female genitalia finding\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Female genitalia finding\Ovary finding\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)

\Functional finding\Decline in functional status (finding)\Decreased hormone secretion\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)

\Endocrine finding\Decreased hormone secretion\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hypergonadotropic hypogonadism (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of pelvis\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital system\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of female reproductive system (disorder)\Disorder of female genital organs\Disorder of ovary\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Disorder of endocrine ovary\Female hypogonadism syndrome\Ovarian failure\Primary ovarian failure\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

13510541000146118 Female Mikati Najjar Sahli syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13510551000146115 Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13510581000146113 Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13510531000146114 syndroom van microcefalie, hypergonadotropisch hypogonadisme en kleine gestalte bij vrouw (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13510561000146117 syndroom van Mikati-Najjar-Sahli bij vrouw nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13510571000146111 syndroom van microcefalie, hypergonadotropisch hypogonadisme en kleine gestalte bij vrouw nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13510661000146118 Mikati-Najjar-Sahli-syndroom bij vrouw nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Is a	Primary ovarian failure	true	Inferred relationship	Some
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Is a	Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	true	Inferred relationship	Some
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Finding site	Ovarian endocrine structure	true	Inferred relationship	Some	5
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	3
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	4
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Interprets	Hormone secretion	true	Inferred relationship	Some	6
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	6
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	1
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	1
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets